Findings from the Section on Bioinformatics and Translational Informatics

Area of Science:

• Bioinformatics and Translational Informatics
• Genomic Medicine
• Health Informatics

Background:

• The field of Bioinformatics and Translational Informatics is rapidly evolving.
• Application in health domain and clinical care is a key focus.
• The IMIA Yearbook aims to synthesize current research and future trends.

Purpose of the Study:

• To summarize excellent current research published in 2015 in Bioinformatics and Translational Informatics.
• To propose a selection of best papers with applications in health and clinical care.
• To provide an overview of current and future activities in the field.

Main Methods:

• A systematic literature search using MEDLINE with specific keywords.
• Evaluation of 1,566 articles by section editors.
• Selection of 14 articles for peer-review and inclusion in the IMIA Yearbook 2016.

Main Results:

• Four excellent articles were selected, focusing on data management of large-scale datasets and genomic medicine.
• Three articles highlighted the potential of re-analyzing existing data, such as from The Cancer Genome Atlas (TCGA).
• One article presented an original analysis of genomic data from sub-Saharan African populations.

Conclusions:

• Research in Bioinformatics and Translational Informatics focuses on new algorithms and statistical models for large-scale genomic data.
• Interpreting genomic data is crucial for clinical translation, precise diagnostics, and personalized medicine.
• Efforts are ongoing to bridge the gap between genomic discoveries and clinical applications.